GENetic Fronto Temporal Dementia Initiative in Lille

Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18+
SponsorUniversity Hospital, Lille

About this trial

GENFI Lille is a French cohort that belongs to the international initiative GENFI2, a five year longitudinal biomarker cohort study of genetic FTD and its associated disorders (including MND/ALS) investigating members of families with a known mutation in GRN or MAPT or an expansion in C9orf72 (including those affected with the disorder as well as at-risk members of families).

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

The participant must be 18 years old or older.

An affected member is one who has been clinically diagnosed by a neurologist as having frontotemporal dementia or a disorder in the FTD spectrum.

An at-risk member is one who is a first-degree relative of a family member affected with the disease.

Pathogenicity of a GRN or MAPT mutation is defined by those included within the GENFI list of FTD mutation. If a novel mutation is discovered that is likely to be pathogenic and has not yet been included within the FTD mutation database then the GENFI Genetics Core will decide on inclusion. Please send an email to the GENFI Trials Team at [email protected].

Disqualifiers

Participant has another medical or psychiatric illness that would interfere in completing assessments.

Contraindications to FDG-PET (allergy to FDG…)

Participant is pregnant.

Trial design

Design model

Parallel

Treatments tested in this trial

  • Investigation procedures

    Diagnostic test

    All participants will be assessed longitudinally with a set of clinical evaluation, neuropsychiatric and cognitive assessments, imaging (MRI and PET scans) and biosample (CSF, blood samples)

Treatment groups

20 Participants
are divided into 2 treatment groups
Group A: asymptomatic at-risk individualOther 1 intervention
Group B: symptomatic individualOther 1 intervention

Trial outcomes

Primary outcomes

1

Difference of the proportion of symptomatic FTD patients or presymptomatic subjects at risk of genetic FTD

Characterization of patients and describe multi characteristics of disease

Time frame
each year during 2 years

Secondary outcomes

Other outcomes

Sponsors and contacts

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